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Vincent Procaccio

Showing results (191-200 of 197) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorderAndrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
Brain : a Journal of Neurology|September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathiesAnnette Lischka, Katja Eggermann, Christopher J Record, et al.
Nature Communications|July 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Christine L Dixon, Hui Guo, et al.
Pageof 20

Showing results (191-200 of 197) with videos related to

Sort By:
Pageof 20
You have reached the last page of results.This site can display upto 197 results.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorderAndrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
Brain : a Journal of Neurology|September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathiesAnnette Lischka, Katja Eggermann, Christopher J Record, et al.
Nature Communications|July 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Christine L Dixon, Hui Guo, et al.
Pageof 20